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Description for Protein KCNQ2

potassium voltage-gated channel, KQT-like subfamily, member 2
7 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04927
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ENB1; HNSPC; KV7.2; KVEBN1; Neuroblastoma specific potassium channel protein; Potassium voltage gated channel subfamily KQT member 2; Neuroblastoma specific potassium channel KQT like 2; BFNC; Potassium voltage-gated channel KQT-like protein 2 isoform b; Potassium voltage-gated channel KQT-like protein 2 isoform a; Potassium voltage-gated channel KQT-like protein 2 isoform c; Potassium voltage-gated channel KQT-like protein 2 isoform d; Potassium voltage-gated channel KQT-like protein 2 isoform e; EBN1; KCNA11; Voltage-gated potassium channel subunit Kv7.2; KQT-like 2; Neuroblastoma-specific potassium channel alpha subunit KvLQT2
    Approved Symbol:
    KCNQ2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 20
    Human (de-) phosphorylation sites: 20; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Amitriptyline(db)

    Associated Genetic Diseases:

  • Epilepsy, benign neonatal, 1(Pd);
  • Myokymia with neonatal epilepsy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 6
  • Isoform 4 : 5
  • Isoform 3 : 5
  • Isoform 2 : 5
  • Isoform 1 : 5
    • Additional Identifiers:

    HPRD: 03757 Entrez Gene ID: 3785 OMIM ID: 602235 Swissprot Accession: O43526; Q53Y30;